Lv615
1680 积分 2025-05-15 加入
Hereditary thrombocytopenia with platelet sialic acid deficiency and mutations in the GNE genes
5天前
已完结
Novel biallelic mutations in PADI6 in patients with early embryonic arrest
8天前
已完结
Small nuclear RNA genes in Mendelian disorders
21天前
已完结
Four pedigrees with aminoacyl-tRNA synthetase abnormalities
1个月前
已完结
The molecular spectrum of Turkish osteopetrosis and related osteoclast disorders with natural history, including a candidate gene, CCDC120
1个月前
已完结
Multiple genetic variants in adolescent patients with left ventricular noncompaction cardiomyopathy
2个月前
已完结
Multiple genetic variants in adolescent patients with left ventricular noncompaction cardiomyopathy
2个月前
已完结
Expanding spectrum of scn1a-related phenotype with novel mutations
2个月前
已完结
[Clinical phenotypes of TBC1D24 gene related epilepsy]
2个月前
已完结
Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
2个月前
已完结
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